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- source_evidence_literature type ECO_0000212 NP418659.RAUKOUSr9lKrZ4FrF50cynzWeriV9W5mlzz6tG2EqRSL8130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP418659.RAUKOUSr9lKrZ4FrF50cynzWeriV9W5mlzz6tG2EqRSL8130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP418659.RAUKOUSr9lKrZ4FrF50cynzWeriV9W5mlzz6tG2EqRSL8130_provenance.
- NP418659.RAUKOUSr9lKrZ4FrF50cynzWeriV9W5mlzz6tG2EqRSL8130_assertion description "[Chloride channel ClCN7 mutations are responsible for severe recessive, dominant, and intermediate osteopetrosis.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP418659.RAUKOUSr9lKrZ4FrF50cynzWeriV9W5mlzz6tG2EqRSL8130_provenance.
- NP418659.RAUKOUSr9lKrZ4FrF50cynzWeriV9W5mlzz6tG2EqRSL8130_assertion evidence source_evidence_literature NP418659.RAUKOUSr9lKrZ4FrF50cynzWeriV9W5mlzz6tG2EqRSL8130_provenance.
- NP418659.RAUKOUSr9lKrZ4FrF50cynzWeriV9W5mlzz6tG2EqRSL8130_assertion SIO_000772 14584882 NP418659.RAUKOUSr9lKrZ4FrF50cynzWeriV9W5mlzz6tG2EqRSL8130_provenance.
- NP418659.RAUKOUSr9lKrZ4FrF50cynzWeriV9W5mlzz6tG2EqRSL8130_assertion wasDerivedFrom befree-2016 NP418659.RAUKOUSr9lKrZ4FrF50cynzWeriV9W5mlzz6tG2EqRSL8130_provenance.
- NP418659.RAUKOUSr9lKrZ4FrF50cynzWeriV9W5mlzz6tG2EqRSL8130_assertion wasGeneratedBy ECO_0000203 NP418659.RAUKOUSr9lKrZ4FrF50cynzWeriV9W5mlzz6tG2EqRSL8130_provenance.
- befree-2016 importedOn "2016-02-19" NP418659.RAUKOUSr9lKrZ4FrF50cynzWeriV9W5mlzz6tG2EqRSL8130_provenance.